tbuckley/cabot-search huggingface dataset:
Abstract 14707: Electrocardiographic Abnormalities Are Common in DCM Patients’ Family Members With Early Manifestations of DCM
Authors: Chelsea S Harris, David Amar, Nicole E Howard, Daniel D Kinnamon, Jinwen Cao, Hanyu Ni, Gordon S Huggins, Garrie Haas, Ray E Hershberger, Matthew T Wheeler
Journal: Circulation (2022)

Introduction: Imaging and 12-lead electrocardiogram (ECG) are recommended to screen individuals at risk of dilated cardiomyopathy (DCM). Few studies have examined the yield of ECG testing in these individuals. We hypothesized that ECG abnormalities are more frequent in DCM patients’ family members with early imaging manifestations of DCM than in those without. Methods: The multisite DCM Precision Medicine Study collected contemporaneous imaging and ECG in 1226 First Degree Relatives (FDRs) of DCM patients aged ≥ 18 years between 06/2016 and 04/2021. Imaging results were used to classify participants into four phenotype groups: left ventricular systolic dysfunction alone (LVSD), left ventricular enlargement alone (LVE), DCM (both LVSD and LVE), or normal (neither LVE nor LVSD). ECG status was defined as normal, borderline, or abnormal. Analysis of the probability of a borderline or abnormal ECG result was performed using a generalized linear mixed model accounting for clinical site heterogeneity and intrafamilial correlation. Results: Both imaging and ECG findings were normal in 57% of FDRs. ECG findings were abnormal or borderline in 42% of FDRs with LVSD or LVE and 87% of FDRs with DCM. As shown in Table, FDRs with DCM were more likely than FDRs with no LVE or LVSD to have abnormal or borderline ECGs after adjusting for race, ethnicity, age, sex, and family ascertainment site (OR: 13.17; 95% CI: 5.18 - 33.50). African American FDRs had higher adjusted odds of abnormal or borderline ECG findings than White FDRs (OR: 1.59; 95% CI: 1.15 - 2.20). FDRs in the 4th quartile by age had higher adjusted odds of abnormal or borderline ECG findings than FDRs in the 1st quartile (OR: 4.36; 95% CI: 3.01 - 6.33). Conclusions: An abnormal or borderline ECG was substantially more likely in at-risk FDRs who, by imaging, had DCM. This study supports the use of ECG testing in the screening of FDRs for DCM.
Abstract 14688: Identification of Patients With Atrial Fibrillation Using an Electrocardiogram in Sinus Rhythm: External Reproduction and Validation of a Deep Neural Network Algorithm
Authors: Henri Gruwez, Myrte Barthels, Laurent Pison, Dieter Nuyens, pieter vandervoort, Noëlla Pierlet
Journal: Circulation (2022)

Introduction: Atrial fibrillation (AF) can occur asymptomatically and can only be diagnosed while the arrhythmia is present. Hence, it is underdetected. An artificial intelligence (AI) algorithm has been developed by Attia et al. to identify patients with AF based on a 12-lead electrocardiogram (ECG) in sinus rhythm (SR). We aim to reproduce these findings in an unrelated patient population and unrelated clinical center using the same deep neural network (DNN) architecture. Methods: All patients older than 18 years with at least one ECG in SR performed at our center between 10/1/2002 and 8/31/2022 were included in the study. Diagnostic labels were given by the GE-Marquette ECG system. For patients without an ECG in AF, all ECGs in SR were included. For patients with one or more ECGs in AF, all ECG in SR starting 31 days before the AF event were included. The ECGs were randomly allocated to a training, internal validation, and testing dataset in a 7:1:2 ratio. A DNN following the architecture of Attia et al. was trained to discriminate between patients with and without AF. Results: The dataset consisted of 494.042 ECGs in SR from 142.310 patients. AF was diagnosed in 8.9%. Testing the model on the first ECG of each patient (main analysis) resulted in a sensitivity of 78.9% (95% CI, 77.6 - 78.5), specificity of 78.0% (95% CI, 77.5 - 78.5), accuracy of 78.1 (95% CI, 77.6 - 78.5), area under the receiver operating curve (AUC) of 0.87 (95% CI, 0.86 - 0.87), and F1 score of 39.3% (95% CI, 38.1 - 40.6). Testing the model on all ECGs in the first 31 days and selecting the maximum probability of AF (secondary analysis) increased the sensitivity to 81.1 (95% CI, 78.4 - 83.7), specificity to 79.8 (95% CI, 79.3 - 80.3), accuracy to 79.8 (95% CI, 79.4 - 80.3), AUC to 0.88 (95% CI, 0.87 - 0.89), but lowered the F1 score to 20.8% (95% CI, 19.51 - 22.0). Conclusion: An AI-enabled ECG algorithm for the identification of patients with AF on a SR-ECG can be reproduced with external data in an external center at clinical grade accuracy.
Abstract 15141: Machine Learning-Driven Serum Metabolomics: Insights Into the Transition to Early-Stage Heart Failure With Preserved Ejection Fraction
Authors: Marcos Rodrigo Alborghetti, Renato Hortegal, Jose Pereira, Mariana Grizante, Renato Cancellier, Luiz Fernando Giolo Alves, Renata Valeri de Freitas, Carolina Moretto Carnielli, Mauricio Sforca, Henrique Takachi Moriya, Adriana Paes Leme, Fausto Feres, Kleber Franchini
Journal: Circulation (2022)

Introduction: Metabolomics has emerged as a powerful tool in providing readouts of early disease states before clinical manifestation. Here we used the predictive power of Unsupervised Hierarchical Clustering Analysis (UHCA) and Automated Machine Learning (AutoML) algorithms to identify serum metabolic panels in a population at risk of developing HFpEF. Methods: We studied 215 subjects staged as non-HF, pre-HFpEF and early-stage HFpEF(es-HFpEF). We evaluated clinical, laboratory, echocardiographic, and NMR-based metabolomics of blood serum data. UHCA and AutoML were used to explore metabolic fingerprints potentially related to clinical features or HFpEF. We used Metabolite Set Enrichment Analysis to explore biochemical pathways. Results: The UHCA identified three major patients (P) and two metabolites (M) clusters (Figure). The P clusters were associated with HFpEF stages, cardiac remodeling, diastolic dysfunction, and sex (Pearson Chi-square, p &lt; 0.05) and M clusters with glycine and serine metabolism and urea cycle pathways (FDR-adjusted p-value &lt; 0.002). Considering non-HFpEF and es-HFpEF groups, AUROC mean for feature subset combinations was 0.897 and the highest AUROC (0.995) combined metabolites, clinical, laboratory and echo features. Of the 64 models trained that included metabolites as input, serine (25), uridine (17), 2-oxoglutarate (14), citrate (14), 2-aminobutyrate (13) and taurine (13) were observed more frequently with feature importance value greater than zero. The metabolites with higher sum values of feature importance were serine (0.173), uridine (0.131), 2-aminobutyrate (0.123), choline (0.098) and dimethylamine (0.087). Conclusions: This study revealed characteristic metabolite profiles in the sera of patients at risk of developing HFpEF. These metabolite panels can add information for classificatory algorithms development and contribute to the understanding of HFpEF pathophysiology.
Abstract 15159: Association of Depression and Adherence to Oral Anticoagulants in Patients With Atrial Fibrillation
Authors: Matthew Lapa, Jared W Magnani
Journal: Circulation (2022)

Introduction: Depression may decrease adherence to cardiovascular medications. Depression has not been well studied in atrial fibrillation (AF). We examined the association of depression with adherence to direct-acting oral anticoagulants (DOACs) in AF, given their crucial role in stroke prevention. We hypothesized that individuals with depression would have decreased adherence to DOACs compared to those without. Methods: We used Optum’s de-identified Clinformatics® Data Mart Database to identify individuals with AF initiating anticoagulation with DOACs between 2013-2019. We identified depression, AF, and covariates using the claims data. We quantified adherence using proportions of days covered, categorized as limited (&lt;80%), adequate (80 to &lt;90%), or optimal (≥90%). We determined the multivariable-adjusted odds of 12-month adherence to DOACs in individuals with depression compared to those without. Covariates included demographics, medical and psychiatric comorbidities, household income, educational attainment, and insurance type. Results: We identified 68,800 individuals with AF who initiated DOACs (age 74.5±8.9, 50.6% female, 29.5% non-White). In those with depression (n=11,059) the odds of adequate adherence was 0.89 (95% CI, 0.85, 0.93) and optimal adherence was 0.87 (95% CI, 0.83, 0.91) compared to individuals without depression ( Figure ). Conclusions: We demonstrated that individuals with depression and comorbid AF were less likely to achieve either adequate or optimal 12-month adherence to DOACs compared to those without depression. Recognizing depression in patients with AF may guide measures to address adherence to oral anticoagulation.
Abstract 15495: Cardiac Structural, Electrical and Mechanical Remodeling Induced by Moderate Endurance Exercise is Sex-Dependent
Authors: Sharon Ann George, Katy Trampel, Kelsey Brunner, Igor R Efimov
Journal: Circulation (2022)

Introduction: While moderate endurance exercise has several health benefits, its effects on cardiac physiology are not fully characterized. By improving metabolism, exercise has been reported to improve cardiac function. However, metabolic changes are sex-specific which could suggest sex dependent modulation of cardiac function by exercise. Hypothesis: Cardiac function modulation by moderate endurance exercise is sex-specific. Methods: Male and female C57BL/6J mice were trained to run on a treadmill for 6 weeks. ECG and echocardiography were performed every two weeks. After 6 weeks of exercise, mice were euthanized and triple parametric optical mapping was performed on Langendorff perfused hearts to assess cardiac physiology. Arrhythmia inducibility was tested by programmed electrical stimulation. Left ventricular (LV) tissue was fixed and RNAseq was performed to determine exercise-induced changes in gene expression. Results: Exercise induced LV dilation in female mice alone as evidenced by increased LV diameter (2.2±0.2 vs 2.5±0.1 mm, p&lt;0.001) and reduced LV wall thickness (1.2±0.1 vs 1.1±0.1 mm, p=0.03). Increased cardiac output (14±1.5 vs 16±1.7 ml/min, p=0.02) and stroke volume were also observed in female mice alone, suggesting improved cardiac mechanical function. Optical mapping revealed further sex differences in exercise-induced modulation of cardiac electrophysiology. In female exercised mice, action potential duration prolongation (59±2 vs 72±7 ms, p=0.01) and decreased voltage-calcium activation delay (-7±3 vs -2±2 ms, p=0.02) were recorded. In males, calcium decay constant was reduced suggesting prolonged calcium reuptake time. Arrhythmia incidences were increased in male and female exercised mice. Lastly, exercise induced changes in gene expression were associated with potassium and calcium ion channels and skeletal muscle genes in females, while metabolism related genes were altered in males. Conclusions: These findings suggest that moderate endurance exercise can significantly alter cardiac physiology. While some of these effects are beneficial like improved cardiac mechanical function, others are pro-arrhythmogenic. Most importantly, exercise-induced cardiac function modulation is sex-specific.
Abstract 14965: 24-Hour Activity and Physical and Mental Health Related Quality of Life Among Women With Myocardial Infarction
Authors: Chorong Park, Britta A Larsen, Harmony Reynolds, Tanya M Spruill
Journal: Circulation (2022)

Introduction: After myocardial infarction (MI), many women experience depressive symptoms and reduced quality of life (QoL), both of which may be influenced by sedentary behavior (SB), physical activity (PA), and sleep. We examined associations of objectively-measured 24-hour activity with depressive symptoms and QoL, and simulated effects of reallocating 30 mins of SB with other activities on the outcomes. Methods: We used baseline data (≥ 2 months post-MI) of a multicenter trial of stress management in women with MI. Depressive symptoms (Patient Health Questionnaire-9 [PHQ-9]), global QoL (PROMIS-mental/physical health), and disease-specific QoL (Seattle Angina Questionnaire-7 [SAQ-7]) were assessed. Participants wore wrist-actigraphs for 7 days. We used a GGIR R-package to classify 24-hour activity into SB, light PA, moderate-to-vigorous PA (MVPA), and sleep. Isotemporal substitution models were used to simulate time reallocation effects of SB on the outcomes adjusting for age, race/ethnicity, and income. Results: Figure 1 shows the 24-hour activity pattern in the sample (n = 87, age = 59.8 ± 12.8y, 67% non-Hispanic white). Greater total SB time (r = -0.34, p &lt; .01) and prolonged (≥ 30mins/bout) SB bouts (r = -0.33, p &lt; .01) were associated with worse SAQ-7 physical limitation but were not associated with other outcomes. The reallocation effects of SB to MVPA or sleep were associated with improved QoL and depressive symptoms (Figure 2). Conclusion: Women with MI had long total SB time with prolonged patterns, both of which are known to increase mortality risk. Breaking up SB bouts, and replacing SB with MVPA or sleep may improve QoL and depressive symptoms in women with MI.
Abstract 14832: Prognostic Impacts of Prehospital Simple Risk Index in Patients With St Elevation Myocardial Infarction
Authors: Hirota Yumi, Keishi Moriwaki, Hiromasa Ito, Takuro Ishise, Jyun Masuda, Atsushi Kawasaki, Kaoru Dohi, Tairo Kurita, Naoki Fujimoto, Norikazu Yamada
Journal: Circulation (2022)

Introduction: Early identification of high-risk patients is the cornerstone of managing patients with ST elevation myocardial infarction (STEMI). The simple risk index (SRI), which is calculated by the formula: (HR х [age/10]2) / systolic blood pressure was shown to be able to stratify 30-day prognosis. However, prognostic impacts of prehospital SRI (Pre-SRI) in STEMI patients remain unknown. Methods: We performed retrospective analysis of 2047 STEMI patients who underwent emergency primary percutaneous coronary intervention (PCI) from January 2013 to December 2017. Pre-SRI was recorded by emergency services at the first contact with the patient before admission, and ER-SRI was recorded at emergency room. The primary end point was defined as 2 years all-cause death. Results: All-cause death was observed in 219 (11%) patients. The cut off value of Pre-SRI for predicting 2 years all cause death was 34 from ROC (AUC 0.800, P&lt;0.001), and the cut off value of ER-SRI for predicting 2 years all cause death was also 34 from ROC analysis (AUC 0.809, P&lt;0.001) According to the Kaplan-Meier survival analysis by combination of Pre-SRI and ER-SRI, the patients with Pre-SRI≧34 and ER-SRI≧34 showed significantly higher all-cause mortality compared to the patients with Pre-SRI≧34 and ER-SRI&lt;34, the patients with Pre-SRI&lt;34 and ER-SRI≧34, and the patients with Pre-SRI&lt;34 and ER-SRI&lt;34 (p&lt;0.001). Conclusions: High Pre-SRI increase mortality and assessment of both high Pre-SRI and high ER-SRI enhance risk stratification in STEMI patients. Early recognizing high Pre-SRI may help us make better strategies and improve prognosis for high-risk STEMI patients.
Abstract 15058: Critical Reappraisal of Genetic Variants in Hypertrophic Cardiomyopathy
Authors: Mateo Alzate Aguirre, Andredi Pumarejo, Nasibeh Zanjirani Farahani, John Giudicessi, Adelaide A Arruda-Olson, Johan M Bos, Michael J Ackerman
Journal: Circulation (2022)

Introduction: Hypertrophic cardiomyopathy (HCM) is a disease characterized by genotypic and phenotypic heterogeneity. Correct classification of genetic variation is critical for clinical interpretation. Herein, variants of uncertain significance (VUS) pose a dilemma in clinical practice, limiting physicians’ decision making and causing anguish to patients and family members. Furthermore, with increasing knowledge and changing guidelines, continuous reassessment is crucial to maintain usefulness in practice. This study sought to assess contemporary variant classification in a large cohort of patients with HCM. Methods: Retrospective analysis of all patients with HCM seen at Mayo Clinic and all patients with a variant in one of 8 genes with strong disease association for HCM were included. Genetic test reports were obtained from electronic health records along with their original variant classification assigned by either a commercial or research laboratory. Reassessment of variant pathogenicity was performed using the 2015 ACMG guideline criteria. Population frequency was obtained using Gnomad. Co-segregation presence or absence was determined by family history and co-segregation studies. Combined Annotation Dependent Depletion (CADD) was used as computational evidence of genetic deleterious effects for single nucleotide variants. Results: Between 2003 to 2019, a total of 1,782 patients underwent laboratory or commercial HCM genetic testing. Of these, 787 (44%) had positive genetic test with a variant at least 1 of the 8 genes. The original pathogenic classification was obtained for 754 patients. Of those, 430 (57%) variants where within the gene MYBPC3, 244 (32%) within MYH7 and 80 (11%) within either ACTC1, MYL2, MYL3, TINNI3, TNNT2 or TPM1. Overall, 222 patients (29%) originally had one or more variants classified as a VUS. Upon reassessment, 120 (54%) were reclassified as either pathogenic (33%), likely pathogenic (58%), benign (5%) or likely benign (3%). Conclusion: Periodic reassessment for HCM genetic variants, especially VUS, is critical for adequate patient care and management. Cascade screening could decrease patients’ uncertainty regarding their prognosis and management.
Abstract 15788: Patent Foramen Ovale With Platypnea-Orthodeoxia Precipitated by Large Hepatic Cyst Requiring Closure: Novel Approach
Authors: Errol Moras, Kruti Gandhi, Apurva Sharma, Francisco Romeo, Parissa Tabrizian, barry A love, Amirali Ahmadi
Journal: Circulation (2022)

Case Presentation: A 71-year-old female with history of liver cyst presented with severe epigastric and RUQ pain. Abdominal CT demonstrated interval worsening of the liver cyst (largest cyst 18cm) causing right hemi-diaphragmatic elevation. She was hemodynamically stable, and plan was for elective surgical cyst fenestration in 2 weeks. However, her pain worsened, and was readmitted with severe dizziness and hypoxia. Chest CTA workup revealed subsegmental pulmonary emboli (PE) bilaterally and lower extremity dopplers showed deep vein thrombosis. She was started on anticoagulation, but her hypoxemia worsened, requiring maximum high flow oxygen. Persistent hypoxia disproportionate to the PE that worsened in the right lateral decubitus position led to repeat transthoracic echocardiogram with bubble study, that demonstrated a large patent foramen ovale (PFO) and a normal right ventricle. Mechanism of this severe hypoxemia was largely attributed to the shunting from the IVC directly across the PFO and couldn’t be explained by a small PE. Given the high risk for paradoxical emboli, the need for PFO closure versus debulking the liver cyst was discussed at the time. Aspiration of the cyst was attempted initially to avoid PFO closure, with temporary improvement in her hypoxemia. Hence a decision was made to close the PFO before further definitive management of the cyst. The PFO was closed with 30mm Amplatzer Talisman occlude device and post operatively her oxygen was weaned down to room air sating 95%. However, her abdominal fullness continued to be present, and she underwent successful fenestration of her cyst. Discussion: There have been cases where large hepatic cysts causing compression of the right atrium were treated either with surgical drainage or cyst resection. Rare cases have the need for a PFO closure with hemodynamic changes, as this one, where it was successfully done, leading to significant improvement.
Abstract 14495: Impact of Complete Revascularization in Chronic Total Occlusion Patients With Multi-Vessel Disease on Long-Term Clinical Outcomes
Authors: Seung-Woon Rha, Byoung Geol Choi, Se Yeon Choi, Jae Kyeong Byun, Jinah Cha, Byambasuren Battumur, Sujin Hyun, Soohyung Park, Dong Oh Kang, Eun Jin Park, Ji Bak Kim, Jin Oh Na, Cheol Ung Choi, Eung Ju KIM, Chang Gyu Park
Journal: Circulation (2022)

Background: This study compares the long-term clinical outcomes between two different treatment strategies: percutaneous coronary intervention (PCI) versus medical therapy (MT) for chronic total occlusion (CTO) in multi-vessel disease (MVD) patients. Methods: The study data obtained from the CTO registry of Korea University Guro Hospital (KUGH), Seoul, South Korea. This trial is a single-center, prospective, all-comer registry designed to reflect “real world” practice since 2004. the study population has been divided into two groups: the CTO-PCI group having 233 patients and the CTO-MT group having 230 patients. A propensity score matching (PSM) analysis had performed to adjust for confounding factors. Results: Following PSM, the two groups comprised the matched individuals from 336 pairs (total N=272 patients). The baseline clinical and angiographic characteristics were well-balanced between the two groups. Up to a 5-year clinical follow-up by Kaplan-Meier survival analysis, the primary endpoint, as defined as the composite of all-cause death or myocardial infarction (MI), occurred more in the CTO-MT group (32.6%) than in the PCI group (2.3%), as did all-cause death (2.3% vs. 8.4%, P=0.042) and MI (4.3% vs. 0.0%, P= 0.023). Target vessel revascularization (TVR) at CTO lesions still occurred more in the CTO-PCI group than in the CTO-MT group (38.3% vs. 6.8%, P=0.009). Conclusions: PCI is shown as a reasonable treatment option compared to MT for CTO lesions in MVD patients; TVR risk is still higher, although.
Abstract 15119: Diastolic Peak Wall Stresses in Marfan vs Non-Marfan Ascending Thoracic Aortic Aneurysm: A Propensity Score Analysis
Authors: Sohil Patel, Siavash Zamirpour, Yue XUAN, Sara Dsouza, Zhongjie Wang, Alejandro Suarez-Pierre, Jennifer S Lawton, Liang Ge, Elaine E Tseng
Journal: Circulation (2022)

Introduction: Marfan syndrome (MFS) carries a risk of aortic dissection and death. The current aneurysm repair guideline of diameter ≥5cm may neglect up to 15% of MFS patients who dissect at smaller diameters. Since dissection can occur biomechanically when wall stress exceeds tissue strength, patient-specific biomechanics may enhance risk stratification for MFS patients. The goal of this study was to compare aneurysm wall stresses between propensity score-matched MFS and non-MFS aneurysm patients. Methods: The cohort consisted of 5 MFS and 42 non-MFS patients with aortic aneurysm. Preoperative CTA or MR scans were used to create 3D hexahedral meshes. Finite element analysis was performed with MFS and nonMFS material properties to determine peak (99th percentile) diastolic stresses[TE1] . Propensity scores were calculated by logistic regression using age, sex, height, hypertension, diabetes, smoking history, valve type, and sinus diameter. Five pairs were formed by 1:1 optimal matching without replacement. Comparisons used the paired t-test. Results: Diameters were similar at the sinus but lower for MFS at the STJ (3.4±0.5 vs 3.9±0.7cm, p=0.003) and the ascending aorta (3.1±0.5 vs 4.3±0.5cm, p&lt;0.001). Peak circumferential stresses (CS) were similar between MFS and nonMFS aneurysms across all regions. As well, peak longitudinal stresses (LS) were similar between the two cohorts across all regions (Fig 1). Conclusion: Both CS and LS were similar at all regions for MFS vs non-MFS patients. Because LS has been implicated in acute dissection and LS were similar, differences in tissue strength, rather than wall stress, are most likely causes of high dissection rates in MFS due to material weakness from fibrillin mutation.